Article
Biochemistry & Molecular Biology
Vasam Manjveekar Prabantu, Nagarajan Naveenkumar, Narayanaswamy Srinivasan
Summary: This study utilized weighted PSNs to analyze the impact of disease-causing mutations on known 3D protein structures. By comparing wildtype and disease variant PSNs, they examined how mutations at one site can affect the structural network at distant sites, and discussed cases where there are limited structural differences in the backbone but significant dissimilarity in all-atom networks.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Shafqat Rasool, Simon Veyron, Naoto Soya, Mohamed A. Eldeeb, Gergely L. Lukacs, Edward A. Fon, Jean-Francois Trempe
Summary: Mutations in PINK1 lead to Parkinson's disease. The study shows that PINK1 is imported into the translocase of the outer mitochondrial membrane (TOM) complex, leading to its activation by autophosphorylation and initiation of mitochondrial clearance. The crystal structures provide insights into the dimeric autophosphorylation complex and the stabilization mechanism of PINK1 on the core TOM complex.
Review
Chemistry, Multidisciplinary
Raquel L. Lieberman, Minh Thu Ma
Summary: Glaucoma is a disease caused by protein misfolding, particularly myocilin mutations leading to intracellular aggregation, resulting in elevated intraocular pressure and vision loss. This disorder is associated with dysfunction in the trabecular meshwork and can be compared to amyloid diseases like Alzheimer's and diabetes.
ACCOUNTS OF CHEMICAL RESEARCH
(2021)
Review
Genetics & Heredity
Charles W. Ryan, Emily R. Peirent, Samantha L. Regan, Alba Guxholli, Stephanie L. Bielas
Summary: Metazoan development depends on the spatiotemporal control of gene expression, which is regulated by epigenetic regulators called polycomb group proteins (PcG). PcG proteins control gene expression, cell fate decisions, cell cycle progression, and DNA damage repair by adding or removing histone 2A monoubiquitination at lysine 119 (H2AK119ub1). Dysfunction of PcG genes is associated with developmental disorders, as their pathogenic variants disrupt essential developmental mechanisms. This review discusses the clinical manifestations of pathogenic PcG gene variants, their molecular functions during development, and summarizes the current understanding of the genetic and molecular mechanisms.
Article
Genetics & Heredity
Haochang Hu, Tian Shu, Jun Ma, Ruoyu Chen, Jian Wang, Shuangshuang Wang, Shaoyi Lin, Xiaomin Chen
Summary: The study investigated genetic mutations in familial hypercholesterolemia patients, revealing elevated LDLC levels in the proband and his daughter, as well as two LDLR missense mutations in the family. Bioinformatic analysis suggested pathogenicity of the mutations, and in vitro experiments indicated the mutations could cause dysfunction in LDLR uptake.
FRONTIERS IN GENETICS
(2021)
Review
Nutrition & Dietetics
Xiangrong Guo, Hui Wang, Jian Xu, Hui Hua
Summary: Vitamin A is crucial for brain function and has important roles in vision, immunity, and reproduction. Previous research has shown that retinoic acid, the active form of vitamin A, plays a role in regulating biological rhythms. However, limited evidence exists regarding the impact of vitamin A deficiency on biological rhythms, with most studies conducted on animals. This review explores the physiological functions of biological rhythms, the pathways/mechanisms involved in regulating these rhythms, and the associations between vitamin A deficiency and biological rhythm disorders/diseases.
FRONTIERS IN NUTRITION
(2022)
Review
Chemistry, Medicinal
Arulsang Kulandaisamy, Fathima Ridha, Dmitrij Frishman, M. Michael Gromiha
Summary: Membrane proteins play crucial roles in cellular functions, including serving as drug targets and mutations in these proteins can lead to diseases. Databases such as MutHTP and TMSNP provide data on disease-causing and neutral mutations in membrane proteins.
CURRENT TOPICS IN MEDICINAL CHEMISTRY
(2022)
Article
Genetics & Heredity
Ruth Chia, Marya S. Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar, Regina H. Reynolds, Emil Gustavsson, Ronald L. Walton, Sarah Ahmed, Coralie Viollet, Jinhui Ding, Mary B. Makarious, Monica Diez-Fairen, Makayla K. Portley, Zalak Shah, Yevgeniya Abramzon, Dena G. Hernandez, Cornelis Blauwendraat, David J. Stone, John Eicher, Laura Parkkinen, Olaf Ansorge, Lorraine Clark, Lawrence S. Honig, Karen Marder, Afina Lemstra, Peter St George-Hyslop, Elisabet Londos, Kevin Morgan, Tammaryn Lashley, Thomas T. Warner, Zane Jaunmuktane, Douglas Galasko, Isabel Santana, Pentti J. Tienari, Liisa Myllykangas, Minna Oinas, Nigel J. Cairns, John C. Morris, Glenda M. Halliday, Vivianna M. Van Deerlin, John Q. Trojanowski, Maurizio Grassano, Andrea Calvo, Gabriele Mora, Antonio Canosa, Gianluca Floris, Ryan C. Bohannan, Francesca Brett, Ziv Gan-Or, Joshua T. Geiger, Anni Moore, Patrick May, Rejko Kruger, David S. Goldstein, Grisel Lopez, Nahid Tayebi, Ellen Sidransky, Lucy Norcliffe-Kaufmann, Jose-Alberto Palma, Horacio Kaufmann, Vikram G. Shakkottai, Matthew Perkins, Kathy L. Newell, Thomas Gasser, Claudia Schulte, Francesco Landi, Erika Salvi, Daniele Cusi, Eliezer Masliah, Ronald C. Kim, Chad A. Caraway, Edwin S. Monuki, Maura Brunetti, Ted M. Dawson, Liana S. Rosenthal, Marilyn S. Albert, Olga Pletnikova, Juan C. Troncoso, Margaret E. Flanagan, Qinwen Mao, Eileen H. Bigio, Eloy Rodriguez-Rodriguez, Jon Infante, Carmen Lage, Isabel Gonzalez-Aramburu, Pascual Sanchez-Juan, Bernardino Ghetti, Julia Keith, Sandra E. Black, Mario Masellis, Ekaterina Rogaeva, Charles Duyckaerts, Alexis Brice, Suzanne Lesage, Georgia Xiromerisiou, Matthew J. Barrett, Bension S. Tilley, Steve Gentleman, Giancarlo Logroscino, Geidy E. Serrano, Thomas G. Beach, Ian G. McKeith, Alan J. Thomas, Johannes Attems, Christopher M. Morris, Laura Palmer, Seth Love, Claire Troakes, Safa Al-Sarraj, Angela K. Hodges, Dag Aarsland, Gregory Klein, Scott M. Kaiser, Randy Woltjer, Pau Pastor, Lynn M. Bekris, James B. Leverenz, Lilah M. Besser, Amanda Kuzma, Alan E. Renton, Alison Goate, David A. Bennett, Clemens R. Scherzer, Huw R. Morris, Raffaele Ferrari, Diego Albani, Stuart Pickering-Brown, Kelley Faber, Walter A. Kukull, Estrella Morenas-Rodriguez, Alberto Lleo, Juan Fortea, Daniel Alcolea, Jordi Clarimon, Mike A. Nalls, Luigi Ferrucci, Susan M. Resnick, Toshiko Tanaka, Tatiana M. Foroud, Neill R. Graff-Radford, Zbigniew K. Wszolek, Tanis Ferman, Bradley F. Boeve, John A. Hardy, Eric J. Topol, Ali Torkamani, Andrew B. Singleton, Mina Ryten, Dennis W. Dickson, Adriano Chio, Owen A. Ross, J. Raphael Gibbs, Clifton L. Dalgard, Bryan J. Traynor, Sonja W. Scholz
Summary: By conducting whole-genome sequencing and genetic analysis, researchers have identified common genetic risk factors and pathways shared between Lewy body dementia, Alzheimer's disease, and Parkinson's disease. This provides a deeper understanding of the complex genetic architecture of these age-related neurodegenerative conditions.
Article
Neurosciences
Zohreh Farsi, Morgan Sheng
Summary: Schizophrenia is a complex psychiatric disorder with poorly understood etiology at the molecular and neurobiological levels. Recent important discoveries include rare genetic variants associated with a significantly increased risk of schizophrenia, which overlap with genes implicated by common variants and are involved in various cellular processes. Animal models carrying mutations in these schizophrenia risk genes offer additional insights into the molecular mechanisms of the disease.
CURRENT OPINION IN NEUROBIOLOGY
(2023)
Article
Thermodynamics
Saleha Ashfaq, Yong Tang, Rashid Maqbool
Summary: In this research, the volatility spillover networking among oil, gold, and Asian leading emerging stock markets is analyzed using the BEKK-GARCH and complex networking approaches. The results indicate that oil and gold have significant effects on the stock indices of Asia Pacific countries, with Chinese stock markets having the most influence.
Review
Dermatology
Gautham Vellaichamy, Peter Dimitrion, Li Zhou, David Ozog, Henry W. Lim, Wilson Liao, Iltefat H. Hamzavi, Qing-Sheng Mi
Summary: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with significant heritability and racial predisposition. The pathogenesis of HS is complex, with some patients associated with mutations in gamma-secretase, which may be a pathway underlying HS.
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2021)
Review
Cardiac & Cardiovascular Systems
Ryan Mao Heng Lim, Angela S. S. Koh
Summary: Metabolomics profiling is a valuable tool in investigating the mechanisms underlying how physical activity influences cardiovascular aging, shedding light on the progression of cardiovascular disease. This review highlights the importance of metabolic pathways connecting physical activity with cardiovascular aging.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2021)
Article
Multidisciplinary Sciences
Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner
Summary: Oral-facial-digital (OFD) syndromes are a group of congenital disorders characterized by face and oral cavity malformations, and digit anomalies. Mutations in the INTS13 gene have been found to cause OFD type 2, disrupting ciliogenesis and gene expression.
NATURE COMMUNICATIONS
(2022)
Article
Oncology
Yang Liu, Fu-Ju Chou, Fengchao Lang, Meili Zhang, Hua Song, Wei Zhang, Dionne L. Davis, Nicole J. Briceno, Yang Zhang, Patrick J. Cimino, Kareem A. Zaghloul, Mark R. Gilbert, Terri S. Armstrong, Chunzhang Yang
Summary: This study reveals that mutations of the IDH gene are common in human malignancies and play critical roles in malignant transformation. The PI3K/AKT signaling pathway is enhanced in IDH-mutated cancer cells. Combining the AKT inhibitor Ipa with the genotoxic agent TMZ shows synergistic therapeutic effect in IDH-mutated cancer cells.
CLINICAL CANCER RESEARCH
(2023)
Article
Plant Sciences
Lan Ju, Huixue Dong, Ruizhen Yang, Yexing Jing, Yunwei Zhang, Liangyu Liu, Yingfang Zhu, Kun-Ming Chen, Junai Ping, Jiaqiang Sun
Summary: In this study, it was discovered that the plant growth regulator BIN2 phosphorylates the Thr280 residue of CONSTANS (CO) protein, inhibiting its function in floral initiation. BIN2 also inhibits the interaction of CO with itself and other CO proteins. This study reveals the mechanism by which BIN2 regulates flowering time in Arabidopsis by modulating the phosphorylation and protein interactions of CO.
FRONTIERS IN PLANT SCIENCE
(2023)
Editorial Material
Gastroenterology & Hepatology
Chantal Housset
CURRENT OPINION IN GASTROENTEROLOGY
(2021)
Review
Medicine, General & Internal
Pierre-Antoine Soret, Julie Magusto, Chantal Housset, Jeremie Gautheron
Summary: NAFLD, associated with obesity and metabolic syndrome, is a common liver disease but lacks approved pharmacological treatments for NASH. Ongoing preclinical research is improving our understanding of NAFLD pathophysiology and identifying new therapeutic targets through various models.
JOURNAL OF CLINICAL MEDICINE
(2021)
Review
Biochemistry & Molecular Biology
Amel Ben Saad, Alix Bruneau, Elodie Mareux, Martine Lapalus, Jean-Louis Delaunay, Emmanuel Gonzales, Emmanuel Jacquemin, Tounsia Ait-Slimane, Thomas Falguieres
Summary: ABC transporters expressed at the canalicular membrane of hepatocytes are crucial for bile secretion by secreting bile acids, phosphatidylcholine, cholesterol, drugs, and other compounds. Dysfunctions in these transporters lead to rare, severe biliary diseases, emphasizing the importance of studying their biology for developing new therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Gastroenterology & Hepatology
Amel Ben Saad, Virginie Vauthier, Agota Toth, Angelika Janaszkiewicz, Anne-Marie Durand-Schneider, Alix Bruneau, Jean-Louis Delaunay, Martine Lapalus, Elodie Mareux, Isabelle Garcin, Emmanuel Gonzales, Chantal Housset, Tounsia Ait-Slimane, Emmanuel Jacquemin, Florent Di Meo, Thomas Falguieres
Summary: Certain CFTR correctors can rescue the maturation and canalicular localization of ABCB4 variants, but do not restore their secretion activity and also inhibit the activity of wild type ABCB4. In silico molecular docking analyses suggest direct interaction of these correctors with the transporter's transmembrane domains and ATP-binding sites.
LIVER INTERNATIONAL
(2021)
Article
Multidisciplinary Sciences
Pasquale Piccolo, Rosa Ferriero, Anna Barbato, Sergio Attanasio, Marcello Monti, Claudia Perna, Florie Borel, Patrizia Annunziata, Annamaria Carissimo, Rossella De Cegli, Luca Quagliata, Luigi M. Terracciano, Chantal Housset, Jeffrey H. Teckman, Christian Mueller, Nicola Brunetti-Pierri
Summary: AAT deficiency is caused by pathogenic variants in the SERPINA1 gene, with the Z allele encoding for Z alpha 1-antitrypsin leading to hepatotoxic polymers. The up-regulation of miR-34b/c in PiZ mouse livers is correlated to intrahepatic ATZ, and its expression is dependent on JNK phosphorylation on Ser574. Deletion of miR-34b/c in PiZ mice results in early liver fibrosis and increased signaling of platelet-derived growth factor.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Biochemistry & Molecular Biology
Ester Gonzalez-Sanchez, Haquima El Mourabit, Marion Jager, Marie Clavel, Sophie Moog, Javier Vaquero, Tatiana Ledent, Axelle Cadoret, Jeremie Gautheron, Laura Fouassier, Dominique Wendum, Nicolas Chignard, Chantal Housset
Summary: The study showed that VDR signaling has an anti-inflammatory role in cholangiocytes and cholangiopathy, while PDIA3-mediated effects of vitamin D and its analogs also have anti-inflammatory effects in these settings.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Amel Ben Saad, Virginie Vauthier, Martine Lapalus, Elodie Mareux, Evangeline Bennana, Anne-Marie Durand-Schneider, Alix Bruneau, Jean-Louis Delaunay, Emmanuel Gonzales, Chantal Housset, Tounsia Ait-Slimane, Francois Guillonneau, Emmanuel Jacquemin, Thomas Falguieres
Summary: ABCB4 is an ABC transporter crucial for phosphatidylcholine secretion into bile. Research has identified RAB10 as a novel molecular partner of ABCB4, influencing its plasma membrane expression and function. Understanding the interactions between RAB10 and ABCB4 may lead to the development of novel therapies for liver diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Gastroenterology & Hepatology
Charlotte Bouzbib, Haquima El Mourabit, Dominique Wendum, Elisabeth Lasnier, Sarah Mouri, Chantal Housset, Dominique Thabut, Nicolas Weiss, Marika Rudler
Summary: The pathophysiology of acute encephalopathy in cirrhotic patients is not fully understood. Recent studies have indicated increased permeability of the blood-brain barrier (BBB) in models of chronic liver disease and encephalopathy. This study focused on the modification of ATP-binding cassette (ABC) transporters in the BBB and found a possible association between the expression of MRP5 and drug-induced acute encephalopathy in cirrhosis.
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
(2022)
Article
Gastroenterology & Hepatology
Augustin Schaefer, Martin Journaux, Haquima El Mourabit, Sarah Mouri, Dominique Wendum, Elisabeth Lasnier, Pierre-Olivier Couraud, Chantal Housset, Dominique Thabut, Marika Rudler, Nicolas Weiss
Summary: The study found that the plasma of cirrhotic patients with HE enhances leukocyte TEM across the hCMEC/D3 BBB model. There was a correlation between U937 TEM, West-Haven score, and ammonemia. A trend towards a correlation between U937 TEM and PS-100Beta in plasma, a marker of increased BBB permeability, was also observed.
CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Svetlana Varyukhina, Antonin Lamaziere, Jean Louis Delaunay, Anaelle de Wreede, Jesus Ayala-Sanmartin
Summary: The research demonstrated that Annexin A2 has the ability to modulate membrane lipid rearrangement by altering cholesterol distribution and lipid compactness, resulting in changes in membrane order in cellular regions.
BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES
(2022)
Article
Cell Biology
Alix Bruneau, Jean-Louis Delaunay, Anne-Marie Durand-Schneider, Virginie Vauthier, Amel Ben Saad, Lynda Aoudjehane, Haquima El Mourabit, Romain Morichon, Thomas Falguieres, Jeremie Gautheron, Chantal Housset, Tounsia Ait-Slimane
Summary: This study identifies MRCK alpha and MRLC as novel partners of ABCB4, and shows that they regulate the cell surface expression of ABCB4.
Article
Multidisciplinary Sciences
Julie Magusto, Carine Beaupere, Marta B. Afonso, Martine Auclair, Jean-Louis Delaunay, Pierre-Antoine Soret, Gilles Courtois, Tounsia Ait-Slimane, Chantal Housset, Isabelle Jeru, Bruno Feve, Vlad Ratziu, Cecilia M. P. Rodrigues, Jeremie Gautheron
Summary: RIPK3 and MLKL have distinct roles in adipocyte differentiation, with MLKL deficiency blocking white adipocyte differentiation but not beige adipocyte differentiation, highlighting the therapeutic potential of MLKL inhibition in obesity.
Article
Biochemistry & Molecular Biology
Jean-Louis Delaunay, Ahmad Elbahnsi, Alix Bruneau, Claire Madry, Anne-Marie Durand-Schneider, Anne Stary, Chantal Housset, Jeremie Gautheron, Isabelle Callebaut, Tounsia Ait-Slimane
Summary: ABCB4 is a hepatocanalicular floppase that plays a role in biliary phosphatidylcholine (PC) secretion. Variations in the ABCB4 gene can cause biliary diseases, including PFIC3. This study demonstrates that ten missense variations in ABCB4 can be rescued by the CFTR potentiator ivacaftor, indicating a potential treatment option for PFIC3 patients with ATP-binding site mutations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)